Variant report

Variant	rs561251568
Chromosome Location	chr4:100857194-100857195
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:100855332..100857889-chr4:100866716..100868581,2	MCF-7	breast:
2	chr4:100854185..100858103-chr4:100869055..100872773,4	MCF-7	breast:
3	chr4:100855576..100858012-chr4:100858356..100861147,2	MCF-7	breast:
4	chr4:100856368..100857910-chr4:100866642..100868433,2	K562	blood:
5	chr4:100855120..100857614-chr4:100862703..100864671,2	K562	blood:
6	chr4:100856020..100858032-chr4:100868560..100871073,2	K562	blood:

Variant related genes	Relation type
ENSG00000164031	Chromatin interaction
ENSG00000245322	Chromatin interaction
ENSG00000164032	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv879661	chr4:100805207-100869635	Weak transcription Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	19 gene(s)	inside rSNPs	diseases
2	nsv879662	chr4:100849466-100876648	Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	51 gene(s)	inside rSNPs	diseases
3	esv1801295	chr4:100856441-100864204	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:100816000-100867000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr4:100816000-100867000	Weak transcription	Lung	lung
3	chr4:100816200-100866200	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr4:100820000-100866200	Weak transcription	Fetal Heart	heart
5	chr4:100824000-100865800	Weak transcription	Psoas Muscle	Psoas
6	chr4:100824400-100866000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr4:100828800-100866200	Weak transcription	Stomach Mucosa	stomach
8	chr4:100829200-100866600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr4:100829600-100866200	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr4:100839200-100857400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr4:100840000-100862600	Weak transcription	K562	blood
12	chr4:100840200-100864600	Weak transcription	Rectal Smooth Muscle	rectum
13	chr4:100840200-100865800	Weak transcription	Ovary	ovary
14	chr4:100840200-100866000	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr4:100840200-100867000	Weak transcription	Gastric	stomach
16	chr4:100840400-100864600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr4:100840400-100866800	Weak transcription	Aorta	Aorta
18	chr4:100840400-100867000	Weak transcription	Esophagus	oesophagus
19	chr4:100840600-100862200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
20	chr4:100840800-100858200	Weak transcription	Fetal Stomach	stomach
21	chr4:100847800-100864600	Weak transcription	Hela-S3	cervix
22	chr4:100847800-100866200	Weak transcription	HSMMtube	muscle
23	chr4:100848400-100866200	Weak transcription	Rectal Mucosa Donor 31	rectum
24	chr4:100849600-100864800	Weak transcription	Rectal Mucosa Donor 29	rectum
25	chr4:100850400-100864800	Weak transcription	HUVEC	blood vessel
26	chr4:100852000-100865400	Weak transcription	HUES48 Cell Line	embryonic stem cell
27	chr4:100852200-100866000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr4:100852400-100859000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr4:100852400-100863400	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr4:100853200-100859800	ZNF genes & repeats	GM12878-XiMat	blood
31	chr4:100854800-100857200	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr4:100855000-100857600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr4:100855200-100858000	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr4:100855400-100861400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
35	chr4:100855600-100857200	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr4:100855600-100857200	ZNF genes & repeats	Fetal Thymus	thymus
37	chr4:100855600-100857600	ZNF genes & repeats	Primary T cells fromperipheralblood	blood
38	chr4:100855600-100858200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr4:100855800-100864600	Weak transcription	Primary neutrophils fromperipheralblood	blood
40	chr4:100855800-100866000	Weak transcription	Colonic Mucosa	Colon
41	chr4:100856000-100857800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
42	chr4:100856200-100857600	ZNF genes & repeats	Primary mononuclear cells fromperipheralblood	Blood
43	chr4:100856200-100857600	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
44	chr4:100856200-100858200	ZNF genes & repeats	Dnd41	blood
45	chr4:100856200-100858800	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr4:100856200-100858800	ZNF genes & repeats	Primary B cells from cord blood	blood
47	chr4:100856200-100859800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr4:100856200-100866000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
49	chr4:100856400-100857200	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr4:100856400-100857200	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain

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